Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de citas: 18

    [doi:10.1007/s00401-020-02223-w]

  • Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.

    Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus

    ANTIOXIDANTS . 9(11): . Nº de citas: 7

    [doi:10.3390/antiox9111063]

  • Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de citas: 25

    [doi:10.1038/s41598-020-75500-z]

  • Murillo-Cuesta S, Artuch-Iriberri R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M and Varela-Nieto I.

    The Value of Mouse Models of Rare Diseases: A Spanish Experience.

    Frontiers in Genetics . 11: 583932-583932. Nº de citas: 11

    [doi:10.3389/fgene.2020.583932]

  • Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.

    Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    ANTIOXIDANTS . 9(10): . Nº de citas: 11

    [doi:10.3390/antiox9100979]

  • Habbane M, Llobet L, Bayona-Bafaluy MP, Bárcena JE, Ceberio L, Gómez-Díaz C, Gort L, Artuch-Iriberri R, Montoya J and Ruiz-Pesini E.

    Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

    GENES . 11(9): . Nº de citas: 6

    [doi:10.3390/genes11091007]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 12

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Klinke G, Richter S, Monostori P, Schmidt-Mader B, Garcia-Cazorla A, Artuch-Iriberri R, Christ S, Opladen T, Hoffmann GF, Blau N and Okun JG.

    Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 712-725. Nº de citas: 8

    [doi:10.1002/jimd.12213]

  • Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    SCIENTIFIC REPORTS . 10(1): 10111-10111. Nº de citas: 17

    [doi:10.1038/s41598-020-66940-8]

  • Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Nº de citas: 77

    [doi:10.1186/s13023-020-01379-8]